下丘脑错构瘤1例报告

下丘脑错构瘤并非真正的肿瘤,是一种罕见的颅内脑组织发育异常的先天性畸形,病理上又称为“下丘脑神经元错构瘤”,临床表现三联征：癫痫,发育迟缓和中枢性性早熟。此病较为少见,其发病率尚无确切的统计。我科收治1例以痴笑样癫痫起病的下丘脑错构瘤病例,现报道如下     

长程视频脑电图在癔症诊断中的应用

目的 探讨长程视频脑电监测在癔症诊断中的应用意义.方法 采用脑电描记系统,对200例初步诊断为癫痫的患者均进行长程视频头皮脑电监测,其中8例发作期脑电无痫样放电,并在发作时进行细致临床观察,考察患者的意识状态及对暗示的反应.结果 8例均诊断为癔症.8例均被完整记录了清醒、睡眠及发作期的临床表现及同步的脑电活动,发作期脑电图均未见痫样放电,多为肌电或肌电与正常节率相间;间期清醒状态脑电,5例为低电压β型脑电图,1例以α节律与β节律相间为背景,其余2例以α节律为背景;睡眠脑电除1例出现偶发尖波外其余均正常;5例在发病时意识清楚,3例意识范围缩窄;对暗示的反应为:4例停止发作,2例改变,2例无反应(均为意识范围缩窄).结论 长程视频脑电在癔症诊断中具有重要的应用价值,同时需要医生在患者发病时进行细致临床观察.     

下丘脑错构瘤的诊断和治疗

下丘脑神经元错构瘤(hypothalamic hamartoma,HH)是一罕见的先天性脑组织发育异常性病变,又称灰结节错构瘤。实为发生于灰结节区的异位神经组织,而并非真性肿瘤,临床较为罕见,人群发病率约为1/5～10万[1]。以痴笑发作(gelastic seizure,GS)、性早熟(precocious pubeny,PP)为突出特点,主要于婴幼儿及儿童期发病。由于对该病认识程度有限,在临床诊断中往往会遗漏。为了进一步提高对本病的认识,本文将HH的研究进展综述如下。     

以痴笑性癫痫起病的下丘脑错构瘤的手术治疗(附3例报道并文献复习)

目的探讨以痴笑性癫痫起病的下丘脑错构瘤的手术方法及术后疗效。方法回顾性分析经显微手术治疗的以痴笑性癫痫起病的下丘脑错构瘤3例患者的临床表现、发病机制、手术入路及术后疗效,并结合文献复习。结果术后随访发现3例患者癫痫发作均缓解,其中2例完全消失,且1例已停用抗癫痫药物治疗。结论显微手术切除是治疗以痴笑性癫痫起病的下丘脑错构瘤较好的一种治疗方法,患者术后癫痫发作控制满意。     

额叶癫痫的长程视频脑电特征及其在额叶癫痫诊断和外科定位中的应用

目的探讨长程视频脑电（VEEG）在额叶癫痫诊断及手术定位中应用的意义。方法回顾性分析47例诊断为额叶性癫痫并进行手术治疗患者的长程视频脑电特征及临床资料。结果癫痫临床发作有以下特点：①持续时间短;②睡眠中较多见;③继发难治全身性发作多见;④强直性或运动性姿势症状突出;⑤常伴发声。癫痫发作间期VEEG存在以下形式：①脑电无异常;②一侧额部或一侧前头部异常波形波幅优势;③额部或前头部异常波形波幅优势且双侧对称;发作期VEEG存在以下形式：①多见去同步化低电压;②一侧或双侧额叶低幅快活动;③一侧或双侧额叶的高幅优势放电;④全导联同步对称异常放电。38例患者的癫痫灶术前被精确定位,9例患者癫痫灶术前不能确定侧别。结论应用长程视频脑电监测能够较全面了解额叶癫痫临床发作表现及脑电图特点,有助于准确诊断及术前定位。     

视频回放归因分析用于长程视频脑电监测护理质量管理

目的 探讨长程视频脑电监测过程中护理质量管理方法。方法 回顾性分析2019年1月—2019年12月期间于厦门弘爱医院行脑电图监测的4 935例患者病例资料,医、护、技三方通过对监测视频回放及脑电图报告重新阅图,重点对监测过程中护理方面存在问题进行回顾性归因分析,找寻监测过程中存在的常见护理问题,以期确定有效整改措施,提高视频脑电图监测护理质量。结果 深呼吸诱发试验落实不规范、肌电电极位置单一、摄像头调整不及时、电极松脱、发作时遮挡摄像镜头、发作时未及时呼救、未根据发作特点确定患者体位、发作性事件识别记录有遗漏、潜在坠床隐患、出现临床发作时处理方法瑕疵、睡眠周期和清醒脑电图过程完整性欠缺等共计11项护理问题为监测中护理问题的多发点。结论 视频回放归因分析及措施制定可以改善和提高长程视频脑电监测护理质量。     

下丘脑错构瘤所致痴笑样癫痫发作3例

目的探讨下丘脑错构瘤所致痴笑样癫痫发作患者的临床表现、影像学特点及治疗方法。方法 3例下丘脑错构瘤所致痴笑样癫痫发作患者中,2例儿童患者有性早熟表现,成人患者无性早熟表现,但伴有全身强直阵挛发作。结果2例患者行翼点入路手术大部分切除病变,1例行γ刀治疗,术后无并发症发生。术后随访1年,痴笑样癫痫均停止,儿童患者性早熟症状明显减轻,成人患者全身强直阵挛发作次数减少。结论下丘脑错构瘤所致痴笑样癫痫是一种药物难治性癫痫,多伴有性早熟;有典型的CT、MRI特征及临床表现;对肿瘤的手术或γ刀治疗可获得较好的效果。     

视频脑电监测对脑性瘫痪合并癫(癎)的诊断意义

本文将伴有各种临床发作的432例脑瘫患儿进行24h视频脑电监测，分析其合并癫痫的诊断及鉴别诊断意义。     

儿童下丘脑错构瘤1例

目的 了解儿童下丘脑错构瘤(hypothalamic hamartomas,HH)的临床特点、诊断及治疗手段.方法 回顾性分析1例儿童下丘脑错构瘤的临床资料,采用右额颞开颅,显微镜下切除肿瘤.结果 手术全切除肿瘤,术后病理符合HH.术后随访3个月,病人痴笑发作消失,轻度记忆力下降,生化指标降至正常,复查头颅MRI未见复...     

以发作性痴笑为表现的下丘脑错构瘤1例

下丘脑错构瘤是一种罕见的神经系统疾病,由不同大小的灰质样脑组织构成,不是真正的肿瘤,因此又称为灰结节错构瘤,发病率在1/(5～10)万,常表现为痴笑发作和性早熟,可伴有认知功能障碍及发育异常,是一种以发笑为主要临床表现的特殊类型癫痫.2017年12月收治以发作性痴笑为表现的下丘脑错构瘤1例,现报道如下.1 病例资料...     

Transcallosal resection of hypothalamic hamartoma for gelastic epilepsy

Introduction Hypothalamic hamartomas (HHs) are commonly associated with severe epilepsy resistant to anticonvulsant therapy. Historically, surgical resection of HHs resulted in considerable morbidity. Discussion Two series of patients who successfully underwent resection using a transcallosal approach have now been published; we report the first UK experience of this technique in a series of five patients with HHs and gelastic epilepsy resistant to anticonvulsant therapy. Patients were assessed pre- and postoperatively for seizure activity, endocrine function, ophthalmology, and neurocognitive function. Two patients had precocious puberty and all had evidence of developmental delay and behavioral problems. Postoperatively, all children experienced at least a 50% reduction in seizure frequency with abolition of major seizure types; one child remains seizure-free. One child developed a mild postoperative right hemiparesis and one developed transient diabetes insipidus. Conclusion There were no adverse developmental effects of surgery. Transcallosal resection of HHs ameliorates resistant epilepsy syndromes associated with HH.     

Cingulate epileptogenesis in hypothalamic hamartoma

Hypothalamic hamartoma (HH) is a relatively rare cause of epilepsy, mainly affecting children. Nearly all patients develop gelastic seizures, often followed by other focal seizure types. Our case illustrates the mechanisms of epileptogenesis in HH. The patient developed gelastic attacks as a baby, and secondarily generalized seizures and drop attacks at 9 years of age. Magnetic resonance imaging (MRI) confirmed the presence of a HH. Presurgical assessment with intracranial electroencephalography (EEG) monitoring recorded gelastic seizures with generalized epileptiform activity. Functional stimulation of the hamartoma provoked gelastic attacks. Single pulse electrical stimulation (SPES) was used to identify epileptogenic cortex. SPES of the left cingular cortex provoked generalized responses similar to the spontaneous generalized discharges. Our results suggest that long-standing history of epilepsy in patients with HH may be related to additional sources of epileptogenic activity. Electrical stimulation performed in this patient provided additional data to favor the hypothesis of secondarily epileptogenesis in the cingulate gyrus independently from the primary origin in the HH.     

A review on the management of epilepsy associated with hypothalamic hamartomas

Introduction  Hypothalamic hamartomas are rare congenital malformations located in the region of the tuber cinereum and third ventricle. Patients may be asymptomatic, but the usual presentation is gelastic seizures, precocious puberty, and/or developmental delay. Clinical presentation  Without surgical intervention, the gelastic seizures, which are typically present in childhood, may progress to other seizure types, including generalized epilepsy, and are generally refractory to antiepileptic drugs. Summary  This review will discuss the clinical and electrophysiologic aspects of these lesions, as well as treatment options, including surgery, endoscopy, and radiosurgery.     

Semiologic aspects of epileptic seizures in 31 patients with hypothalamic hamartoma

Purpose: Characterization of seizure semiology in patients with hypothalamic hamartoma (HH) based on video–electroencephalography (EEG) monitoring (VEM). Methods: We retrospectively analyzed seizure semiology of 31 patients (20 male, mean age 23.5 years) who underwent VEM at the University Hospitals Freiburg or Heidelberg, Germany. Inclusion criteria were magnetic resonance evidence of an HH, no prior surgical or radiosurgical treatment, and at least two video‐documented seizures. A total of 263 seizures were included (mean number of seizures/patient 8.5, range 2–10). To analyze age‐dependent changes in seizure semiology, patients were grouped into “children” (3–11 years, n = 5), “adolescents” (12–17 years, n = 4), and “adults” (≥18 years, n = 22). Results: According to patient history, gelastic seizures had occurred in all patients, in 74% as the initial seizure type at epilepsy onset. In VEM, epileptic laughter varied from facial grinning to intense contractions of the diaphragm and body shaking. Unilateral motor signs were seen ipsi‐ and contralaterally to the HH. Tonic seizures were frequent and did not depend on the state of vigilance. Children, in contrast to adults and adolescents, did not show secondarily generalized tonic–clonic seizures, the gelastic component was the dominating and initial semiologic element, and seizures were significantly shorter. Conclusion: Seizure semiology is highly variable and age dependent. This may reflect network modulations with different propagation of ictal activity and/or secondary epileptogenesis. Detailed knowledge about such changes may contribute to both earlier recognition of seizures during childhood and better assignment of seizure types to a hypothalamic origin.     

Transcallosal resection of hypothalamic hamartoma for intractable epilepsy

PURPOSE: To present the results of transcallosal surgical resection of hypothalamic hamartoma (HH) in 26 patients with refractory epilepsy in a prospective outcome study. METHODS: Patients with refractory epilepsy symptomatic to HH were referred for surgical resection of their HH (mean age, 10.0 years; range, 2.1-24.2 years). A transcallosal, interforniceal approach was used to remove and/or disconnect the hamartoma. Volumetry was obtained on pre- and postoperative brain MRI scans to determine percentage of resection. Outcome assessment included determination of postoperative seizure frequencies in comparison to baseline and the incidence of postoperative complications. Postoperative changes in cognitive and behavioral functioning, in comparison to baseline, were elicited by parental report. RESULTS: The average postoperative follow-up interval was 20.3 months (range, 13-28 months). Fourteen (54%) patients were completely seizure free, and nine (35%) had at least a 90% improvement in total seizure frequency. Parents reported postoperative improvement in behavior in 23 (88%) patients and in cognition in 17 (65%) patients. Transient postoperative memory disturbance was seen in 15 (58%) patients, but persisted in only two (8%). Two (8%) patients had persisting endocrine disturbance requiring hormone replacement therapy (diabetes insipidus and hypothyroidism in one each). With univariate analysis, the likelihood of a seizure-free outcome correlated with younger age, shorter lifetime duration of epilepsy, smaller preoperative HH volume, and 100% HH resection. CONCLUSIONS: Refractory epilepsy associated with HH can be safely and effectively treated with surgical resection by a transcallosal, interforniceal approach. Short-term memory deficits appear to be transient for most patients, and family perception of the impact of surgery on cognitive and behavioral domains is favorable. Complete resection yields the best result.     

Cognitive functions in juvenile and adult patients with gelastic epilepsy due to hypothalamic hamartoma

PURPOSE: To describe extend and severity of cognitive deficits in juvenile and adult patients with gelastic seizures and hypothalamic hamartoma (HH) and to analyze the impact of epilepsy-related variables on cognitive performance. METHODS: Thirteen juvenile and adult patients (mean age, 25 years; seven men) underwent comprehensive neuropsychological testing assessing intellectual performance, attention and executive functions, verbal and visual memory, and visuospatial abilities. RESULTS: Intellectual abilities ranged from moderate mental retardation to good average performance; 54% of the patients displayed below-average global intellectual abilities. Attentional and executive functions were impaired in 23% to 46% of the patients. Below-average visuospatial capabilities were observed in 39% of the cases. Memory functions were impaired regarding both visual (77%) and verbal learning (62%). Nonparametric correlation analysis revealed a significant relation between monthly partial seizure frequency and reduced cognitive flexibility and reduced performance in mental rotation. In addition, HH volume was significantly negatively correlated with cognitive flexibility, whereas age at onset and duration of epilepsy did not show significant correlation to cognitive performance. CONCLUSIONS: More than half of the adult patients with gelastic seizures and HH displayed deficits in a broad range of cognitive functions, expressed mostly in visual and verbal learning and memory. Some of the deficits could be shown to correlate with disease-related characteristics representing the severity of the epilepsy or the size of the underlying lesion. These findings prompt for a longitudinal investigation of the development of these cognitive deficits to analyze further the relevant factors contributing to this wide spectrum of cognitive impairments.     

EEG and video-EEG seizure monitoring has limited utility in patients with hypothalamic hamartoma and epilepsy

Purpose: Hypothalamic hamartomas (HHs) are a malformation of the ventral hypothalamus and tuber cinereum, associated with gelastic seizures and epilepsy. We sought to determine the spectrum of electroencephalography (EEG) abnormalities in a large cohort of HH patients. Methods: Data was collected for HH patients undergoing evaluation between 2003 and 2007. Data included seizure history, prior treatment, and results of diagnostic studies. After informed consent, data were entered into a database. Key Findings: We reviewed 133 HH patients. Mean age at time of data analysis was 15.7 years (59.4% male). Most patients had gelastic (77%) and/or complex partial seizures (58%). Records for 102 EEG studies on 73 patients were reviewed. Interictal epileptiform abnormalities were seen in 77%, localizing predominately to the temporal and frontal regions. Records for 104 video‐EEG (VEEG) studies on 65 patients were reviewed. Of 584 gelastic seizures (GS) captured, no ictal EEG change was noted in 438 (75%). Of GS with localizing features, 89% suggested onset from the temporal and/or frontal regions. There were 160 complex partial seizures (CPS). For those with localizing features, 100% localized to the temporal and/or frontal head regions. EEG and VEEG findings correlated with the side of HH attachment. VEEG did not influence outcome. Significance: EEG features in HH patients are diverse. The majority of gelastic seizures fail to demonstrate change in the EEG. The lack of EEG changes with many clinical seizures, and the false localization seen in those events with an ictal change suggest the utility of EEG is limited in the evaluation of these patients.     

Successful third surgery for a case of status gelasticus: lessons learned after nearly 200 cases of hypothalamic hamartoma surgical resection

We report the case of a 3-year-old boy with status gelasticus symptomatic to a giant hypothalamic hamartoma despite two previous hypothalamic hamartoma surgeries using pterional approaches from each side. Following his third resection employing an endoscopic, transventricular approach, he has been seizure free for 6 months with significant cognitive, behavioral, and electroencephalographic improvement. This case reinforces the importance of surgery for a form of status epilepticus and in addition that repeat (three) surgeries can be successful, indeed life changing. The optimal surgical approaches and management plan for hypothalamic hamartoma surgery-including subtemporal, subfrontal, transcallosal, and endoscopic approaches-are discussed, including how these treatment decisions have evolved as a result of our large series experience.     

Functional brain mapping of ictal activity in gelastic epilepsy associated with hypothalamic hamartoma: A case report

Hypothalamic hamartomas (HHs) have been demonstrated as the cause of gelastic epilepsy, both by intracranial electrodes and functional imaging. The neocortex becomes secondarily involved, through poorly characterized propagation pathways. The detailed dynamics of seizure spread have not yet been demonstrated, owing to the limited spatial–temporal resolution of available functional mapping. We studied a patient with epilepsy associated with HH and gelastic epilepsy. Simultaneous electroencephalography (EEG) and functional magnetic resonance imaging (fMRI) of several seizure events were obtained, with blood oxygen level dependent (BOLD) activation of the hamartoma, and left hemisphere hypothalamus, hippocampus, parietal–occipital area, cingulate gyrus, and dorsal–lateral frontal area. Integration of regional BOLD kinetics and EEG power dynamics strongly suggests propagation of the epileptic activity from the HH through the left fornix to the temporal lobe, and later through the cingulate fasciculus to the left frontal lobe. The EEG/fMRI method has the spatial–temporal resolution to study the dynamics of seizure activity, with detailed demonstration of origin and propagation pathways.